Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy.

doi:10.3390/ijms21218200

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Article

Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy.

International journal of molecular sciences - 2 Nov 2020

van Rijn Jorik M, Werner Lael, Aydemir Yusuf, Spronck Joey M A, Pode-Shakked Ben, van Hoesel Marliek, Shimshoni Elee, Polak-Charcon Sylvie, Talmi Liron, Eren Makbule, Weiss Batia, H J Houwen Roderick, Barshack Iris, Somech Raz, Nieuwenhuis Edward E S, Sagi Irit, Raas-Rothschild Annick, Middendorp Sabine, Shouval Dror S

Abstract excerpt

Hyaline fibromatosis syndrome (HFS), resulting from ANTXR2 mutations, is an ultra-rare disease that causes intestinal lymphangiectasia and protein-losing enteropathy (PLE). The mechanisms leading to the gastrointestinal phenotype in these patients are not well defined. We present two patients with congenital diarrhea, severe PLE and unique clinical features resulting from deleterious ANTXR2 mutations. Intestinal...

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PMID: 33147779
DOI: 10.3390/ijms21218200
PMCID: PMC7662532

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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